Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1

Affiliations

• ¹ Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.
• ² Children's Healthcare of Atlanta at Scottish Rite, Atlanta, Georgia.
• ³ Department of Medical Genetics, BC Women's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
• ⁴ Division of Clinical Genetics and Metabolism, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
• ⁵ Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.
• ⁶ Division of Medical Genetics, Al DuPont Hospital for Children, Wilmington, Delaware.
• ⁷ Children's Hospital of Wisconsin, Milwaukee, Wisconsin.
• ⁸ U.O.C Laboratorio di Genetica Medica, Dipartimento di Oncoematologia, Fondazione Policlinico di Tor Vergata, Rome, Italy.
• ⁹ Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.
• ¹⁰ Department of Neurology, University of Virginia Medical Center, Charlottesville, Virginia.
• ¹¹ Greenwood Genetic Center, Greenwood, South Carolina.
• ¹² Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy.
• ¹³ Center for Rare Diseases, Clinica Las Condes, Santiago, Chile.
• ¹⁴ Division of Genetic, Genomic, and Metabolic Disorders, Detroit Medical Center, Children's Hospital of Michigan, Detroit, Michigan.
• ¹⁵ Division of Medical Genetics, McGill University Health Centre, Montréal, Quebec, Canada.
• ¹⁶ Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
• ¹⁷ Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
• ¹⁸ SOC Genetica Medica, AOU Meyer, Florence, Italy.
• ¹⁹ Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
• ²⁰ Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, New South Wales, Australia.
• ²¹ Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
• ²² Department of Precision Medicine, Università degli Studi della Campania "Luigi Vanvitelli", Naples, Italy.
• ²³ Department of Dermatology and Venereology, Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.
• ²⁴ Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
• ²⁵ The Raphael Recanati Genetics Institute, Rabin Medical Center, Petah Tikva, Israel.
• ²⁶ Division of Child Neurology, University of North Carolina School of Medicine, Chapel Hill, North Carolina.
• ²⁷ Neurofibromatosis Diagnostic and Treatment Program, St. Joseph's Children's Hospital, Paterson, New Jersey.
• ²⁸ Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, South Australia, Australia.
• ²⁹ Neurofibromatosis Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
• ³⁰ Carolinas HealthCare System, Levine Children's Specialty Center, Charlotte, North Carolina.
• ³¹ Department of Genetics, Hospital Universitario Ramón y Cajal, Institute of Health Research (IRYCIS) and Center for Biomedical Research-Network of Rare Diseases (CIBERER), Madrid, Spain.
• ³² Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
• ³³ Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
• ³⁴ Division of Medical Genetics, Stanford University School of Medicine, Stanford, California.
• ³⁵ Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
• ³⁶ Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon.
• ³⁷ Department of Medical Genetics and Metabolism, Valley Children's Healthcare, Madera, California.
• ³⁸ Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
• ³⁹ The South Australian Clinical Genetics Service at the Women's and Children's Hospital, North Adelaide, South Australia, Australia.
• ⁴⁰ Center for Human Genetics, Institute of Pathology and Genetics (IPG), Gosselies, Belgium.
• ⁴¹ Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.
• ⁴² Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania.
• ⁴³ Section of Pediatrics, Department of Translational Medical Sciences, Federico II University, Naples, Italy.
• ⁴⁴ Genomics Medicine Program, Children's Hospital Minnesota, Minneapolis, Minnesota.
• ⁴⁵ Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.
• ⁴⁶ University of Iowa Stead Family Children's Hospital, Iowa City, Iowa.
• ⁴⁷ Division of Clinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, New York.
• ⁴⁸ Department of Pediatrics and Opthalmology, University of Minnesota, Minneapolis, Minnesota.
• ⁴⁹ Molecular Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
• ⁵⁰ Department of Pediatrics and Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, Tennessee.
• ⁵¹ Department of Genetics and Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina.
• ⁵² Division of Clinical Genetics, Department of Paediatrics and Child Health, Children's Hospital at Westmead, University of Sydney, Sydney, New South Wales, Australia.
• ⁵³ Specialistic and General Surgery Unit, Department of Woman and Child, Referral Centre of Neurofibromatosis, Università degli Studi della Campania "Luigi Vanvitelli", Naples, Italy.
• ⁵⁴ Cleveland Clinic, Genomic Medicine Institute, Cleveland, Ohio.
• ⁵⁵ Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
• ⁵⁶ Department of Neuro-Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas.
• ⁵⁷ Division of Genetics, Department of Pediatrics, Maine Medical Center, Portland, Maine.
• ⁵⁸ Child Neurology Division, Department of Pediatrics, Sapienza University of Rome, Rome, Italy.
• ⁵⁹ Department of Dermatology, University of Alabama at Birmingham, Birmingham, Alabama.
• ⁶⁰ Division of Pediatric Hematology-Oncology, Greehey Children's Cancer Research Institute, The University of Texas Health Science Center, San Antonio, Texas.
• ⁶¹ Department of Clinical Cancer Genetics, The University of Texas MD Anderson Cancer Center, Houston, Texas.
• ⁶² Division of Pediatric Genetics, Department of Pediatrics, University of Florida College of Medicine, Jacksonville, Florida.
• ⁶³ Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
• ⁶⁴ Center for Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
• ⁶⁵ Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, Virginia.
• ⁶⁶ Department of Neurology, New York University School of Medicine, Langone Medical Center, New York, New York.
• ⁶⁷ Division of Molecular Neuro-Oncology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
• ⁶⁸ Department of Human Genetics, KU Leuven, Leuven, Belgium.